Canonical Allele Identifier: CA8609169

Gene: KIF18B

Linked Data

• dbSNP Id: rs767711247
• ExAC: 17:43003477 CTGAGAGTGCTCTCCCCACCCTGA / C
• gnomAD v2: 17-43003477-CTGAGAGTGCTCTCCCCACCCTGA-C
• gnomAD v4: 17-44926109-CTGAGAGTGCTCTCCCCACCCTGA-C
• MyVariant Identifiers: chr17:g.43003478_43003500del (hg19) ; chr17:g.44926110_44926132del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44926114_44926136del , CM000679.2:g.44926114_44926136del	GRCh38
NC_000017.10:g.43003482_43003504del , CM000679.1:g.43003482_43003504del	GRCh37
NC_000017.9:g.40359008_40359030del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593135.6:c.2507_2529del MANE Select	ENSP00000465992.1:p.Ile836SerfsTer16
ENST00000587309.5:c.*268_*290del	ENSP00000465377.1:n.*268_*290del
ENST00000593135.5:c.2507_2529del	ENSP00000465992.1:p.Ile836SerfsTer16
NM_001264573.1:c.*268_*290del	NP_001251503.1:n.*268_*290del
NM_001265577.1:c.2507_2529del	NP_001252506.1:p.Ile836SerfsTer16
XM_011524385.1:c.2570_2592del	XP_011522687.1:p.Ile857SerfsTer16
XM_011524386.1:c.2543_2565del	XP_011522688.1:p.Ile848SerfsTer16
XM_011524387.1:c.2543_2565del	XP_011522689.1:p.Ile848SerfsTer16
XM_011524388.1:c.2534_2556del	XP_011522690.1:p.Ile845SerfsTer16
XM_011524389.1:c.*268_*290del	XP_011522691.1:n.*268_*290del
XM_011524390.1:c.2465_2487del	XP_011522692.1:p.Ile822SerfsTer16
XM_011524385.2:c.2570_2592del	XP_011522687.1:p.Ile857SerfsTer16
XM_011524386.2:c.2543_2565del	XP_011522688.1:p.Ile848SerfsTer16
XM_011524387.2:c.2543_2565del	XP_011522689.1:p.Ile848SerfsTer16
XM_011524388.3:c.2534_2556del	XP_011522690.1:p.Ile845SerfsTer16
XM_011524389.2:c.*268_*290del	XP_011522691.1:n.*268_*290del
XM_011524390.2:c.2465_2487del	XP_011522692.1:p.Ile822SerfsTer16
NM_001264573.2:c.*268_*290del	NP_001251503.1:n.*268_*290del
NM_001265577.2:c.2507_2529del MANE Select	NP_001252506.1:p.Ile836SerfsTer16